Search Results: 5 unique variants retrieved
c.676C>G
p.(Arg226Gly) Legacy AA 180
Variant Type:
Point
Domain:
Act-Peptide
cDNA number:
676
Variant Effect:
Missense
Location:
Exon(6)
CpG:
Y
No. of cases reported:
6
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.676C>T
p.(Arg226Trp) Legacy AA 180
Variant Type:
Point
Domain:
Act-Peptide
cDNA number:
676
Variant Effect:
Missense
Location:
Exon(6)
CpG:
Y
No. of cases reported:
43
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.677G>A
p.(Arg226Gln) Legacy AA 180
Variant Type:
Point
Domain:
Act-Peptide
cDNA number:
677
Variant Effect:
Missense
Location:
Exon(6)
CpG:
Y
No. of cases reported:
60
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.677G>T
p.(Arg226Leu) Legacy AA 180
Variant Type:
Point
Domain:
Act-Peptide
cDNA number:
677
Variant Effect:
Missense
Location:
Exon(6)
CpG:
Y
No. of cases reported:
3
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.677G>C
p.(Arg226Pro) Legacy AA 180
Variant Type:
Point
Domain:
Act-Peptide
cDNA number:
677
Variant Effect:
Missense
Location:
Exon(6)
CpG:
Y
No. of cases reported:
3
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show